C M Mak1, E Cy Law2,3, H Hc Lee1, W K Siu1, K M Chow4, S Kc Au Yeung5, H Ys Ngan6, N Kc Tse7, N S Kwong8, G Cf Chan9, K W Lee4, W P Chan4, S F Wong5, M Hy Tang6, A Sy Kan6, A Pw Hui6, P L So5, C C Shek7, R Sy Lee7, K Y Wong9, E Kc Yau7, K H Poon8, S Siu8, G Wk Poon9, A Mk Kwok9, J Wy Ng4, V Cs Yim5, G Gy Ma6, C H Chu10, T Y Tong1, Y K Chong1, S Pl Chen1, C K Ching1, A Ok Chan3, S Tam4, R Lk Lau11, W F Ng11, K C Lee1, A Yw Chan1, C W Lam2. 1. Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong. 2. Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong. 3. Division of Clinical Biochemistry, Queen Mary Hospital, Pokfulam, Hong Kong. 4. Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Kwai Chung, Hong Kong. 5. Department of Obstetrics and Gynaecology, Tuen Mun Hospital, Tuen Mun, Hong Kong. 6. Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong. 7. Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong. 8. Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong. 9. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong. 10. Department of Pathology, United Christian Hospital, Kwun Tong, Hong Kong. 11. Department of Pathology, Yan Chai Hospital, Tsuen Wan, Hong Kong.
Abstract
INTRODUCTION: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM. METHODS: The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling. RESULTS: In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years. CONCLUSION: The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.
INTRODUCTION: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM. METHODS: The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling. RESULTS: In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years. CONCLUSION: The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.
Entities:
Keywords:
Metabolism, inborn errors; Neonatal screening; Pilot projects; Tandem mass spectrometry
Authors: Yeow-Kuan Chong; Chi-Chun Ho; Shui-Yee Leung; Susanna K P Lau; Patrick C Y Woo Journal: Comput Struct Biotechnol J Date: 2018-08-28 Impact factor: 7.271
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